MANEAL
Mannosidase Endo-Alpha Like
Gene Information Card
| Symbol | MANEAL |
|---|---|
| Full Name | Mannosidase Endo-Alpha Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 149175 ncbi.nlm.nih.gov/gene/149175 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q5VYH0 |
| OMIM ID | 615730 |
| HGNC ID | 28477 |
| Aliases | MANEA-like, FLJ32670 |
Description
MANEAL (mannosidase endo-alpha like) is a protein-coding gene located on chromosome 1p36.33. It encodes a putative mannosidase that may function in the endoplasmic reticulum to process N-glycans, similar to MANEA. The protein contains a mannosidase homology domain and is predicted to be involved in glycoprotein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 4.2 | Low |
| Kidney | 3.1 | Low |
| Testis | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Low expression |
| HepG2 | 4.0 | Low expression |
| K562 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect |
| c.100C>T | Synonymous | <0.01% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • mannosidase activity | • endoplasmic reticulum |
| • N-glycan processing |
Pathways
• N-glycan biosynthesis
• ER quality control
Protein Summary
The MANEAL protein is a 456-amino acid type II transmembrane protein localized to the endoplasmic reticulum. It contains a mannosidase homology domain and is predicted to cleave alpha-1,2-mannose linkages in N-glycans, though its exact substrate specificity remains uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MANEAL Knockout HEK293 Cell Line | EDJ-KQ10989 | Human | 149175 | Details Get a Quote |
| MANEAL Knockout HeLa Cell Line | EDJ-KQ37529 | Human | 149175 | Details Get a Quote |
| MANEAL Knockout A-549 Cell Line | EDJ-KQ38827 | Human | 149175 | Details Get a Quote |
| MANEAL Knockout HCT 116 Cell Line | EDJ-KQ38828 | Human | 149175 | Details Get a Quote |
